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CLL Symptoms & Diagnosis

In the early stages, chronic lymphocytic leukemia (CLL) doesn’t usually cause any noticeable symptoms, and it may take years before symptoms develop. As the disease progresses, symptoms increase. Symptoms of CLL are often similar to the flu or other common, less serious diseases. Sometimes CLL is discovered during a routine blood test. If you have symptoms of leukemia or if you or your doctor suspects you may have leukemia, your doctor will want to perform a thorough physical examination and talk to you about your medical history.

CLL Symptoms

Many symptoms of CLL can be attributed to changes in the number of normal blood cells in your body. Check with your doctor if you have any of the signs or symptoms described here.

Symptoms from Low White Blood Cells

Flu-like symptoms, such as fever, sweats, and body aches

Infections from bacteria or viruses

Symptoms from Low Red Blood Cells

Shortness of breath

Fatigue, weakness, lack of energy, or sleepiness

Symptoms from Low Platelets

Bleeding from the gums

Red spots on the palate or ankles

Easy bruising or prolonged bleeding from cuts

Frequent or severe nosebleeds

Other General Symptoms

Loss of appetite

Unexplained weight loss

Pain or aches in the bones or joints

Swelling of the abdomen (may indicate an enlarged liver or spleen)

Swollen lymph nodes in the neck, underarm, stomach, or groin

Diagnosing CLL

During the physical exam, your doctor will check for signs of CLL, such as swollen or enlarged lymph nodes or spleen. An accurate diagnosis of CLL requires several diagnostic tests. Any or all of the following tests may be used to diagnose the disease.

Complete Blood Count (CBC) and Peripheral Blood Smear

A blood sample is examined for the number of red blood cells and platelets and the number and type of white blood cells. People with CLL have too few red blood cells and platelets and too many lymphocytes (more than 10,000/mm3). In addition, many of the lymphocytes appear abnormal.

Immunophenotyping (Flow Cytometry)

A sample of blood cells is examined through a sophisticated machine called a flow cytometer to see whether cancerous lymphocytes are present and whether they are B lymphocytes (B-cells) or T lymphocytes (T-cells). Immunophenotyping also can determine whether the leukemic cells are a slow-growing or more aggressive, faster-growing type. These tests look for substances called ZAP-70 and CD38. Low amounts of ZAP-70 and CD38 indicate slower-growing CLL.

Bone Marrow Aspiration and Biopsy

Often blood tests are enough to make a CLL diagnosis; however, your doctor may use bone marrow tests to see how advanced your CLL is or if you have a certain gene mutation. In bone marrow aspiration and biopsy, samples of bone marrow and a small piece of bone are taken from the back of the pelvic bone using hollow needles. The samples are then examined under a microscope to see how much of the normal marrow has been replaced by leukemic cells and to see the pattern of spread of the leukemic cells. This short procedure can cause some brief pain at the biopsy site. But it provides valuable information about your bone marrow and blood cells. Additional bone marrow samples obtained after treatment begins are important to see how well treatment is working.

Cytogenetic Analysis

Under a microscope, blood or bone marrow cells are examined for changes in their chromosomes. In people with CLL, sometimes a chromosome is missing a part (called a deletion). Less often, an extra copy of a chromosome may be present (called trisomy) or two chromosomes may have exchanged some of their DNA (called a translocation).

Fluorescent in Situ Hybridization (FISH)

The fluorescent dyes used in this test attach to specific parts of certain chromosomes. FISH is very accurate, and most chromosomal abnormalities can be seen under a microscope using this technique. Results are available much more quickly from FISH than from cytogenetic analysis. In addition, FISH analysis helps to distinguish CLL from other forms of leukemia or lymphoma. This test also helps determine whether your CLL is a more aggressive or less aggressive form of the disease.

Molecular Tests

Polymerase chain reaction (PCR) is a very sensitive DNA replication technique that can be used to detect changes in the structure or function of genes. This test may be used to see whether part of your immunoglobulins (immune system proteins) have changed, which may be a predictor of the aggressiveness of your CLL.

Imaging Tests

Imaging tests such as chest X-ray, computed tomography (CT) scan, magnetic resonance imaging (MRI) scan, or ultrasound may be performed to determine whether the leukemia is impacting other parts of your body. For example, a CT scan may be used to determine whether your spleen or lymph nodes are enlarged.

Other Biopsies

Sometimes leukemia can involve other parts of your body, such as the skin. If your doctor thinks it will help with your treatment, you may undergo a biopsy of such a location if this is suspected.